Results 31 to 40 of about 7,418 (222)
Surprisingly high number of Twintrons in vertebrates
Biology Direct, 2013 Twintrons represent a special intronic arrangement in which introns of two different types occupy the same gene position. Consequently, alternative splicing of these introns requires two different spliceosomes competing for the same RNA molecule. So far,
Janice Jessin +2 more
doaj +1 more source
Zrsr2 and functional U12-dependent spliceosome are necessary for follicular development
iScience, 2022 Summary: ZRSR2 is a splicing factor involved in recognition of 3′-intron splice sites that is frequently mutated in myeloid malignancies and several tumors; however, the role of mutations of Zrsr2 in other tissues has not been analyzed.
Isabel Gómez-Redondo +10 more
doaj +1 more source
U12 type introns were lost at multiple occasions during evolution
BMC Genomics, 2010 Background Two categories of introns are known, a common U2 type and a rare U12 type. These two types of introns are removed by distinct spliceosomes. The phylogenetic distribution of spliceosomal RNAs that are characteristic of the U12 spliceosome, i.e.
Bartschat Sebastian, Samuelsson Tore
doaj +1 more source
Cell Reports, 2023 Summary: Aspartyl-tRNA synthetase 2 (Dars2) is involved in the regulation of mitochondrial protein synthesis and tissue-specific mitochondrial unfolded protein response (UPRmt).
Xuan Gu +9 more
doaj +1 more source
Challenging the spliceosome machine [PDF]
Genome Biology, 2006 Abstract Background Using cDNA copies of transcripts and corresponding genomic sequences from the Berkeley Drosophila Genome Project, a set of 24,753 donor and acceptor splice sites were computed with a scanning algorithm that tested for single nucleotide insertion, deletion and substitution ...
Weir, Michael +2 more
openaire +2 more sources
Synergistic assembly of human pre-spliceosomes across introns and exons
eLife, 2018 Most human genes contain multiple introns, necessitating mechanisms to effectively define exons and ensure their proper connection by spliceosomes. Human spliceosome assembly involves both cross-intron and cross-exon interactions, but how these work ...
Joerg E Braun +3 more
doaj +1 more source
Nature Communications, 2020 Spinal muscular atrophy (SMA) is associated with minor splicing-related defects. Here the authors develop Drosophila models with minor spliceosomal-snRNA deletions, and demonstrate SMA-like phenotypes.
Liang Li +9 more
doaj +1 more source
Zhongguo shuxue zazhi, 2022 Objective To analyze the polymorphisms of GYPA and GYPB mRNA spliceosomes associated with MNS blood group, and to explore the mechanism of subcellular localization of GPA and GPB protein isomerism encoded by various spliceosomes as well as the expression
Yanlian LIANG +5 more
doaj +1 more source
Spliceosome Mutations in Uveal Melanoma [PDF]
International Journal of Molecular Sciences, 2020 Uveal melanoma (UM) is the most common primary intraocular malignancy of the eye. It has a high metastatic potential and mainly spreads to the liver. Genetics play a vital role in tumor classification and prognostication of UM metastatic disease. One of the driver genes mutated in metastasized UM is subunit 1 of splicing factor 3b (SF3B1), a component ...
Josephine Q.N. Nguyen +8 more
openaire +2 more sources
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source